X-linked thrombocytopenia

X-linked thrombocytopenia (pronunciation: eks-linkt throm-bo-cy-to-pe-ni-a) is a rare genetic disorder characterized by a low platelet count (thrombocytopenia) and a tendency to develop hematomas and bleeding.

Etymology

The term "X-linked thrombocytopenia" is derived from its genetic origin and its main symptom. "X-linked" refers to the fact that the disorder is caused by a mutation on the X chromosome. "Thrombocytopenia" is a combination of the Greek words "thrombos" (clot), "kytos" (cell), and "penia" (deficiency), indicating a deficiency of clotting cells, or platelets.

Symptoms

The primary symptom of X-linked thrombocytopenia is a low platelet count, which can lead to easy bruising, prolonged bleeding, and the development of hematomas. Other symptoms may include anemia, leukopenia, and an increased risk of infection.

Causes

X-linked thrombocytopenia is caused by mutations in the WAS gene, which is located on the X chromosome. This gene is responsible for producing a protein that is crucial for the proper functioning of cells in the immune system and blood clotting.

Diagnosis

Diagnosis of X-linked thrombocytopenia typically involves a complete blood count (CBC) to assess platelet levels, as well as genetic testing to identify mutations in the WAS gene.

Treatment

Treatment for X-linked thrombocytopenia is typically focused on managing symptoms and preventing complications. This may include platelet transfusions, medications to boost platelet production, and in severe cases, stem cell transplantation.

Related Terms

External links

Medical encyclopedia article on X-linked thrombocytopenia
Wikipedia's article - X-linked thrombocytopenia

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